KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive spasticity in the lower limbs. The nosology of autosomal recessive forms is complex as most mapped loci have been identified in only one or a few...

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Hlavní autoři: Klebe, Stephan, Lossos, Alexander, Azzedine, Hamid, Mundwiller, Emeline, Sheffer, Ruth, Gaussen, Marion, Marelli, Cecilia, Nawara, Magdalena, Carpentier, Wassila, Meyer, Vincent, Rastetter, Agnès, Martin, Elodie, Bouteiller, Delphine, Orlando, Laurent, Gyapay, Gabor, El-Hachimi, Khalid H, Zimmerman, Batel, Gamliel, Moriya, Misk, Adel, Lerer, Israela, Brice, Alexis, Durr, Alexandra, Stevanin, Giovanni
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3355258/
https://ncbi.nlm.nih.gov/pubmed/22258533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.261
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